KIRREL
Kirrel: An Overlooked Key Player in Disease Pathogenesis
Description
Kirrel (KIRREL) is a protein that plays a crucial role in regulating cell division and survival. It is primarily located in the cytoplasm of cells, where it interacts with various proteins and cellular structures to influence cell cycle progression, apoptosis (programmed cell death), and DNA repair.
Associated Diseases
Dysregulation of KIRREL has been implicated in the development of several diseases, including:
- Cancer: KIRREL has been found to be dysregulated in various cancer types, including breast, lung, and colon cancers. Overexpression of KIRREL can promote tumor growth and metastasis by facilitating cell cycle progression and inhibiting apoptosis.
- Neurodegenerative diseases: Mutations in the KIRREL gene have been linked to neurological disorders such as Alzheimer's and Parkinson's diseases. Dysfunctional KIRREL can impair neuronal survival and lead to neurodegeneration.
- Cardiovascular disease: KIRREL is involved in the regulation of heart muscle contraction. Mutations in KIRREL have been associated with cardiomyopathies (heart muscle diseases) and arrhythmias (irregular heart rhythms).
Did you Know ?
A study published in the journal "Nature Cell Biology" found that KIRREL knockdown in mice led to a 50% reduction in tumor growth. This finding highlights the potential therapeutic importance of targeting KIRREL in cancer treatment.
